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Hyperimmunoglobulinemia D and periodic fever syndrome; treatment with etanercept and follow-up

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Abstract

The hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) is an autoinflammatory syndrome. It is caused by the mutations of the mevalonate kinase gene. There is no consensus for specific therapy of HIDS, but there are some case reports and studies in regards to its treatment with drugs like colchicine, steroids, nonsteroid anti-inflammatory drugs, simvastatin, anakinra, thalidomide, and etanercept. We are reporting a case evaluated for the complaints of abdominal pain and febrile episodes with massive hepatomegaly, not common finding on physical examination, its treatment with etanercept, and long-term follow-up.

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Abbreviations

HIDS:

hyperimmunoglobulinemia D and periodic fever

MVK:

mevalonate kinase

Hct:

hematocrit

AST:

aspartate amino transferase

ALT:

alanine amino transferase

CT:

computerized tomography

ESR:

erythrocyte sedimentation rate

MEFV:

Mediterranean fever

SAA:

serum amyloid A

Anti-TNF:

antitumor necrosing factor

HMG-CoA:

3’-hydroxy-3’-methylglutarylcoenzyme A

IL-1:

interleukin-1

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Authors and Affiliations

  1. Pediatric Nephrology and Rheumatology Unit, Faculty of Medicine, Hacettepe University, 06100, Sihhiye, Ankara, Turkey

    Rezan Topaloğlu & Nuray Aktay Ayaz

  2. Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Academic Medical Center, Amsterdam, The Netherlands

    Hans R. Waterham

  3. Pediatric Gastroenterology Unit, Faculty of Medicine, Hacettepe University, 06100, Sihhiye, Ankara, Turkey

    Aysel Yüce

  4. Pediatric Hematology Unit, Faculty of Medicine, Hacettepe University, 06100, Sihhiye, Ankara, Turkey

    Fatma Gumruk

  5. Pediatric Immunology Unit, Faculty of Medicine, Hacettepe University, 06100, Sihhiye, Ankara, Turkey

    Özden Sanal

Authors
  1. Rezan Topaloğlu
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  2. Nuray Aktay Ayaz
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  3. Hans R. Waterham
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  4. Aysel Yüce
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  5. Fatma Gumruk
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  6. Özden Sanal
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Correspondence to Rezan Topaloğlu.

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Topaloğlu, R., Ayaz, N.A., Waterham, H.R. et al. Hyperimmunoglobulinemia D and periodic fever syndrome; treatment with etanercept and follow-up. Clin Rheumatol 27, 1317–1320 (2008). https://doi.org/10.1007/s10067-008-0911-3

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  • DOI: https://doi.org/10.1007/s10067-008-0911-3

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